| Index patient | Sex | Ethnicity | Country of origin | AAO | AAE | Family history | Symptoms | Initial symptoms | Reported mutations |
|---|---|---|---|---|---|---|---|---|---|
Yes
|
♂
|
C
|
ROU
|
0
|
3
|
No
|
Decreased body weight
Upper limb dystonia Hypotonia Short stature Delayed motor development Postural instability Myoclonus Dystonia (any or unspecified) Intellectual developmental disorder Parkinsonism Developmental regression Developmental delay Tremor (any or unspecified) Dystonia, segmental/multifocal Rigidity Lower limb dystonia Dystonia, limb Dystonia/Parkinsonism Cognitive impairment Bradykinesia Tremor, action Show more (+18) |
Myoclonus
Developmental delay |